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Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
(2016)
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...
Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy
(W J G Press, 2008-04-07)
The pathogenesis of intrahepatic cholestasis of pregnancy (ICP), a disorder that adversely affects maternal wellbeing and fetal outcome, is unclear. However, multiple factors probably interact along with a genetic ...
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
(Wiley, 2020)
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. ...
Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report
(Funpec-editora, 2016-01-01)
Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting ...
Anatomical Variant in Middle Turbinate: Concha Bullosa, Finding on Cone Beam Computerized Tomography
(Universidad de Costa Rica, 2023)
The nasal turbinates, also called nasal shells, are attached to the lateral and/or superior walls of the nostril and can present several anatomical variations. Thus, we can mention the concha bullosa, the ...
Identificação de variantes de hemoglobina em doadores de sangue
(Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2004-03)
Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the ...